Canonical Allele Identifier: CA379093173

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775073C>G (hg19) ; chr11:g.1753843C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753843C>G , CM000673.2:g.1753843C>G	GRCh38
NC_000011.9:g.1775073C>G , CM000673.1:g.1775073C>G	GRCh37
NC_000011.8:g.1731649C>G	NCBI36
NG_008655.1:g.15150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1031G>C MANE Select	ENSP00000236671.2:p.Gly344Ala
ENST00000367196.4:c.926G>C	ENSP00000356164.4:p.Gly309Ala
ENST00000427721.3:c.456G>C
ENST00000429746.2:c.926G>C	ENSP00000402586.2:p.Gly309Ala
ENST00000433655.6:c.*197G>C	ENSP00000404902.1:n.*197G>C
ENST00000438213.6:c.1148G>C	ENSP00000415036.2:p.Gly383Ala
ENST00000497544.3:n.739G>C
ENST00000636397.1:c.1031G>C	ENSP00000489910.1:p.Gly344Ala
ENST00000636571.1:c.1010G>C	ENSP00000490770.1:p.Gly337Ala
ENST00000636579.1:c.32G>C	ENSP00000490489.1:p.Gly11Ala
ENST00000636615.1:c.1031G>C	ENSP00000490014.1:p.Gly344Ala
ENST00000636843.1:c.1025G>C	ENSP00000490897.1:p.Gly342Ala
ENST00000637158.1:n.629G>C
ENST00000637381.2:n.3459G>C
ENST00000637387.1:c.1010G>C	ENSP00000490598.1:p.Gly337Ala
ENST00000637815.2:c.1013G>C	ENSP00000490344.1:p.Gly338Ala
ENST00000637915.1:c.1031G>C	ENSP00000490471.1:p.Gly344Ala
ENST00000637937.1:n.339G>C
ENST00000678991.1:c.*892G>C	ENSP00000503019.1:n.*892G>C
ENST00000236671.6:c.1031G>C	ENSP00000236671.2:p.Gly344Ala
ENST00000427721.2:c.431G>C	ENSP00000415840.2:p.Gly144Ala
ENST00000429746.1:c.362G>C	ENSP00000402586.1:p.Gly121Ala
ENST00000433655.5:c.*197G>C	ENSP00000404902.1:n.*197G>C
ENST00000497544.1:n.739G>C
NM_001909.4:c.1031G>C	NP_001900.1:p.Gly344Ala
NM_001909.5:c.1031G>C MANE Select	NP_001900.1:p.Gly344Ala